Canonical Allele Identifier: CA5082409
Gene: ALDH1A1 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.72911950C>A
GRCh37 chr9:g.75526866C>A
gnomAD v2:
9:75526866 C / A
gnomAD v3:
9:72911950 C / A
gnomAD v4:
chr9-72911950-C-A
Joint Max Group AF 0.01257696 (NFE)
Genomes Max Group AF 0.01058707 (NFE)
Exomes Max Group AF 0.0126631 (NFE)
ClinVar RCV:
RCV000953271
ClinVar Variation:
773509
dbSNP:
8187974
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.72911950C>A , CM000671.2:g.72911950C>A GRCh38
NC_000009.11:g.75526866C>A , CM000671.1:g.75526866C>A GRCh37
NC_000009.10:g.74716686C>A NCBI36
NG_012249.1:g.46104G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000297785.8:c.1200+8G>T MANE Select ENSP00000297785.3:n.1200+8G>T
ENST00000297785.7:c.1200+8G>T ENSP00000297785.3:n.1200+8G>T
NM_000689.4:c.1200+8G>T NP_000680.2:n.1200+8G>T
NM_000689.5:c.1200+8G>T MANE Select NP_000680.2:n.1200+8G>T
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